[Recent studies on dilated cardiomyopathy caused by TTN mutations in children]

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):217-222. doi: 10.7499/j.issn.1008-8830.2208163.
[Article in Chinese]

Abstract

The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy (DCM). This article reviews the worldwide studies on potential molecular pathogenesis (transcription, post-translational modification, etc.), clinical phenotypes, and gene therapies of pediatric DCM caused by TTN mutations, with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.

编码肌联蛋白(titin)的TTN基因突变是扩张型心肌病(dilated cardiomyopathy,DCM)遗传病因中最常见的突变类型。该文就当前国内外对TTN基因突变导致儿童DCM可能的分子发病机制(转录、翻译后修饰等)、临床表型及基因治疗等研究做一总结,以期为今后精准治疗TTN基因突变导致的儿童DCM提供参考。.

Keywords: Child; Dilated cardiomyopathy; TTN gene; Titin; Treatment.

Publication types

  • Review
  • English Abstract

MeSH terms

  • Cardiomyopathy, Dilated* / genetics
  • Cardiomyopathy, Dilated* / therapy
  • Connectin* / genetics
  • Genetic Therapy
  • Humans
  • Mutation
  • Phenotype

Substances

  • Connectin
  • TTN protein, human